Genome Diagnostics Laboratory (University Medical Center Utrecht), GDL-UMCU

General information

Genome Diagnostics Laboratory, GDL-UMCU
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
http://www.umcutrecht.nl/en/Ziekenhuis/Professionals/Diagnostiek-aanvragen/The-Genome-Diagnostics-Section
Organization ID: 274978

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1011

Gene

GeneSubmissionsLast Updated
AARS14Apr 17, 2018
ABCG51Apr 17, 2018
ACTN21Apr 17, 2018
ACTN41Apr 17, 2018
ACVR2B3Apr 17, 2018
ACVRL13Apr 17, 2018
ADA2Apr 17, 2018
AGL1Apr 17, 2018
AICDA2Apr 17, 2018
AKAP911Apr 17, 2018
ALDH7A15Apr 17, 2018
ALG12Apr 17, 2018
ALG62Apr 17, 2018
AMH2Apr 17, 2018
AMHR21Apr 17, 2018
AMT2Apr 17, 2018
ANK16Apr 17, 2018
ANK218Apr 17, 2018
ANKRD19Apr 17, 2018
ANKRD112Apr 17, 2018
AQP21Apr 17, 2018
ARHGEF105Apr 17, 2018
ARL13B1Apr 17, 2018
ASL2Apr 17, 2018
ATM18Apr 17, 2018
ATXN12Apr 17, 2018
B3GAT31Apr 17, 2018
BBS13Apr 17, 2018
BBS104Apr 17, 2018
BBS126Apr 17, 2018
BBS24Apr 17, 2018
BBS72Apr 17, 2018
BBS99Apr 17, 2018
BCKDHA1Apr 17, 2018
BLOC1S61Apr 17, 2018
BRCA153Apr 17, 2018
BRCA2144Apr 17, 2018
C11orf654Apr 17, 2018
C1QA1Apr 17, 2018
C1QB1Apr 17, 2018
C91Apr 17, 2018
CACNA1H5Apr 17, 2018
CACNB211Apr 17, 2018
CALR38Apr 17, 2018
CAPN32Apr 17, 2018
CASQ213Apr 17, 2018
CBS3Apr 17, 2018
CCM24Apr 17, 2018
CD2AP1Apr 17, 2018
CD401Apr 17, 2018
CD461Apr 17, 2018
CDKN1B1Apr 17, 2018
CHRNA21Apr 17, 2018
CHRNA42Apr 17, 2018
CPLANE13Apr 17, 2018
CPS15Apr 17, 2018
CPT1A1Apr 17, 2018
CSTB1Apr 17, 2018
CTSD5Apr 17, 2018
CYP24A11Apr 17, 2018
DBT2Apr 17, 2018
DEPDC51Apr 17, 2018
DHCR73Apr 17, 2018
DLAT1Apr 17, 2018
DNMT3B1Apr 17, 2018
DPYD3Apr 17, 2018
DSC216Apr 17, 2018
DSCAS1Apr 17, 2018
DTNA8Apr 17, 2018
DYNC2LI11Apr 17, 2018
EFEMP21Apr 17, 2018
ELP16Apr 17, 2018
EPG52Apr 17, 2018
ESR25Apr 17, 2018
ETFB1Apr 17, 2018
FA2H1Apr 17, 2018
FAM83H2Apr 17, 2018
FAS3Apr 17, 2018
FBN217Apr 17, 2018
FERMT31Apr 17, 2018
FGF142Apr 17, 2018
FOLR12Apr 17, 2018
FOXE12Apr 17, 2018
FOXG11Apr 17, 2018
FREM23Apr 17, 2018
G6PC11Apr 17, 2018
GATAD12Apr 17, 2018
GLRA11Apr 17, 2018
GLRB1Apr 17, 2018
GPHN2Apr 17, 2018
GRIN2A3Apr 17, 2018
GRIN2B3Apr 17, 2018
GRIP15Apr 17, 2018
GUSB1Apr 17, 2018
HGF1Apr 17, 2018
HGSNAT1Apr 17, 2018
HPS41Apr 17, 2018
HPS51Apr 17, 2018
IFNGR22Apr 17, 2018
IFT1402Apr 17, 2018
IGHMBP23Apr 17, 2018
IL10RA4Apr 17, 2018
IL12RB14Apr 17, 2018
IL17RA1Apr 17, 2018
IRS13Apr 17, 2018
ITCH1Apr 17, 2018
ITK3Apr 17, 2018
JAK31Apr 17, 2018
JPH29Apr 17, 2018
JPH31Apr 17, 2018
KARS12Apr 17, 2018
KBTBD131Apr 17, 2018
KCNC35Apr 17, 2018
KCNE31Apr 17, 2018
KCNJ81Apr 17, 2018
KCNMA12Apr 17, 2018
KCNMA1-AS11Apr 17, 2018
KCNQ32Apr 17, 2018
KIF5A2Apr 17, 2018
KMT2D1Apr 17, 2018
KRIT14Apr 17, 2018
LAMA49Apr 17, 2018
LDLR2Apr 17, 2018
LEPR3Apr 17, 2018
LHB4Apr 17, 2018
LIPA1Apr 17, 2018
LIPT21Apr 17, 2018
LOC1019280081Apr 17, 2018
LOC1053710461Apr 17, 2018
LOC1073033431Apr 17, 2018
LOC1086639931Apr 17, 2018
LOC1086639962Apr 17, 2018
LOC1090295361Apr 17, 2018
LOC1148278502Apr 17, 2018
LOC1170387951Apr 17, 2018
LPIN24Apr 17, 2018
LRBA2Apr 17, 2018
LYST9Apr 17, 2018
MAP3K12Apr 17, 2018
MCM41Apr 17, 2018
MED251Apr 17, 2018
MFSD81Apr 17, 2018
MIB15Apr 17, 2018
MLYCD1Apr 17, 2018
MMUT3Apr 17, 2018
MRE112Apr 17, 2018
MSH22Apr 17, 2018
MSH65Apr 17, 2018
MTMR23Apr 17, 2018
MTTP4Apr 17, 2018
MYBPC346Apr 17, 2018
MYH1121Apr 17, 2018
MYL24Apr 17, 2018
MYL32Apr 17, 2018
MYLK23Apr 17, 2018
MYO5B4Apr 17, 2018
MYOZ26Apr 17, 2018
MYPN16Apr 17, 2018
NCR12Apr 17, 2018
NDE110Apr 17, 2018
NDUFS11Apr 17, 2018
NEFH1Apr 17, 2018
NEK12Apr 17, 2018
NFKBIA1Apr 17, 2018
NGF1Apr 17, 2018
NGF-AS11Apr 17, 2018
NHLRC12Apr 17, 2018
NLRP123Apr 17, 2018
NLRP75Apr 17, 2018
NPC19Apr 17, 2018
NPHS14Apr 17, 2018
NSUN68Apr 17, 2018
PACS11Apr 17, 2018
PAH13Apr 17, 2018
PAX92Apr 17, 2018
PCCA1Apr 17, 2018
PCK11Apr 17, 2018
PCNT1Apr 17, 2018
PCSK92Apr 17, 2018
PDSS11Apr 17, 2018
PDYN2Apr 17, 2018
PDYN-AS12Apr 17, 2018
PHYH1Apr 17, 2018
PIK3R21Apr 17, 2018
PKHD17Apr 17, 2018
PKP224Apr 17, 2018
PLCB17Apr 17, 2018
PLCE17Apr 17, 2018
PLCE1-AS12Apr 17, 2018
PMM26Apr 17, 2018
PMS211Apr 17, 2018
PNKP7Apr 17, 2018
PNPLA61Apr 17, 2018
POLR3B1Apr 17, 2018
POLR3GL2Feb 6, 2019
PRF11Apr 17, 2018
PRICKLE21Apr 17, 2018
PRKCG4Apr 17, 2018
PSMB81Apr 17, 2018
RAD211Apr 17, 2018
RAD501Apr 17, 2018
RNASEH2A2Apr 17, 2018
RNASEH2C2Apr 17, 2018
ROBO22Apr 17, 2018
RUNX11Apr 17, 2018
SACS2Apr 17, 2018
SALL14Apr 17, 2018
SATB21Apr 17, 2018
SBDS3Apr 17, 2018
SBF21Apr 17, 2018
SCARF21Apr 17, 2018
SEC631Apr 17, 2018
SERPING12Apr 17, 2018
SGCG1Apr 17, 2018
SH3BP22Apr 17, 2018
SIX51Apr 17, 2018
SLC12A32Apr 17, 2018
SLC19A33Apr 17, 2018
SLC29A31Apr 17, 2018
SLC2A104Apr 17, 2018
SLC46A11Apr 17, 2018
SLC6A52Apr 17, 2018
SMARCAL11Apr 17, 2018
SNHG221Apr 17, 2018
SNTA13Apr 17, 2018
SP1101Apr 17, 2018
SPAST2Apr 17, 2018
SPATA53Aug 3, 2015
SPG1113Apr 17, 2018
SPG71Apr 17, 2018
SPINK52Apr 17, 2018
ST142Apr 17, 2018
STAT31Apr 17, 2018
STXBP21Apr 17, 2018
SYNE221Apr 17, 2018
SYNGAP12Apr 17, 2018
TARDBP2Apr 17, 2018
TBK12Apr 17, 2018
TBP2Apr 17, 2018
TCIRG11Apr 17, 2018
TCN21Apr 17, 2018
TCTN21Apr 17, 2018
TGFB22Apr 17, 2018
TK21Apr 17, 2018
TLR31Apr 17, 2018
TMEM1381Apr 17, 2018
TMEM2311Apr 17, 2018
TMPO3Apr 17, 2018
TNFRSF13C1Apr 17, 2018
TNNT11Apr 17, 2018
TPP12Apr 17, 2018
TRPM41Apr 17, 2018
TTC7A1Apr 17, 2018
UNC93B11Apr 17, 2018
UNG1Apr 17, 2018
UPB11Apr 17, 2018
UPK3A3Apr 17, 2018
VANGL12Apr 17, 2018
VPS13B15Apr 17, 2018
WDPCP2Apr 17, 2018
WWOX1Apr 17, 2018
XDH1Apr 17, 2018
ZDHHC242Apr 17, 2018
ZFYVE261Apr 17, 2018
ZFYVE271Apr 17, 2018
ZNF4231Apr 17, 2018

Condition

NameSubmissionsLast Updated
46,XY sex reversal, type 62Apr 17, 2018
ALG1-CDG2Apr 17, 2018
Abetalipoproteinaemia4Apr 17, 2018
Abnormal facial shape2Feb 6, 2019
Aicardi Goutieres syndrome 32Apr 17, 2018
Aicardi Goutieres syndrome 42Apr 17, 2018
Amelogenesis imperfecta, hypocalcification type2Apr 17, 2018
Amyotrophic lateral sclerosis type 11Apr 17, 2018
Amyotrophic lateral sclerosis type 102Apr 17, 2018
Aortic aneurysm, familial thoracic 421Apr 17, 2018
Argininosuccinate lyase deficiency2Apr 17, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 1116Apr 17, 2018
Arrhythmogenic right ventricular dysplasia 924Apr 17, 2018
Arterial tortuosity syndrome4Apr 17, 2018
Ataxia-telangiectasia syndrome18Apr 17, 2018
Ataxia-telangiectasia-like disorder 12Apr 17, 2018
Atypical hemolytic-uremic syndrome 21Apr 17, 2018
Autoimmune disease, syndromic multisystem1Apr 17, 2018
Autoimmune lymphoproliferative syndrome3Apr 17, 2018
Autosomal recessive cutis laxa type 1B1Apr 17, 2018
Autosomal recessive osteopetrosis 11Apr 17, 2018
Autosomal recessive polycystic kidney disease7Apr 17, 2018
Bamforth-Lazarus syndrome2Apr 17, 2018
Bardet-Biedl syndrome 130Apr 17, 2018
Benign familial neonatal seizures 22Apr 17, 2018
Biotin-responsive basal ganglia disease3Apr 17, 2018
Branchiootorenal syndrome 21Apr 17, 2018
Breast-ovarian cancer, familial 153Apr 17, 2018
Breast-ovarian cancer, familial 2144Apr 17, 2018
Brugada syndrome 411Apr 17, 2018
Brugada syndrome 61Apr 17, 2018
C1q deficiency2Apr 17, 2018
Cardiac arrhythmia, ankyrin B-related18Apr 17, 2018
Cardiomyopathy, dilated, 2b2Apr 17, 2018
Carnitine palmitoyltransferase 1A deficiency1Apr 17, 2018
Cerebral cavernous malformation4Apr 17, 2018
Cerebral cavernous malformations 24Apr 17, 2018
Cerebral folate transport deficiency2Apr 17, 2018
Ceroid lipofuscinosis neuronal 22Apr 17, 2018
Charcot-Marie-Tooth disease type 2B21Apr 17, 2018
Charcot-Marie-Tooth disease, recessive intermediate B2Apr 17, 2018
Charcot-Marie-Tooth disease, type 2N4Apr 17, 2018
Charcot-Marie-Tooth disease, type 4B13Apr 17, 2018
Charcot-Marie-Tooth disease, type 4B21Apr 17, 2018
Charlevoix-Saguenay spastic ataxia2Apr 17, 2018
Chédiak-Higashi syndrome9Apr 17, 2018
Classic homocystinuria3Apr 17, 2018
Cleft palate, isolated1Apr 17, 2018
Coenzyme Q10 deficiency, primary, 21Apr 17, 2018
Cohen syndrome15Apr 17, 2018
Common variable immunodeficiency 41Apr 17, 2018
Common variable immunodeficiency 8, with autoimmunity2Apr 17, 2018
Complement component 9 deficiency1Apr 17, 2018
Congenital contractural arachnodactyly17Apr 17, 2018
Congenital defect of folate absorption1Apr 17, 2018
Congenital disorder of glycosylation type 1C2Apr 17, 2018
Congenital disorder of glycosylation, type Ia6Apr 17, 2018
Congenital hyperammonemia, type I5Apr 17, 2018
Congenital microvillous atrophy4Apr 17, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Apr 17, 2018
Congenital total pulmonary venous return anomaly9Apr 17, 2018
Cornelia de Lange syndrome 41Apr 17, 2018
Deafness, autosomal recessive 391Apr 17, 2018
Deficiency of beta-ureidopropionase1Apr 17, 2018
Deficiency of malonyl-CoA decarboxylase1Apr 17, 2018
Dihydropyrimidine dehydrogenase deficiency3Apr 17, 2018
Dilated cardiomyopathy 1AA1Apr 17, 2018
Dilated cardiomyopathy 1JJ9Apr 17, 2018
Dilated cardiomyopathy 1KK16Apr 17, 2018
Dilated cardiomyopathy 1T3Apr 17, 2018
Disseminated atypical mycobacterial infection6Apr 17, 2018
Early infantile epileptic encephalopathy 107Apr 17, 2018
Early infantile epileptic encephalopathy 127Apr 17, 2018
Ectodermal dysplasia and immunodeficiency 21Apr 17, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant21Apr 17, 2018
Epilepsy, childhood absence 65Apr 17, 2018
Epilepsy, familial focal, with variable foci 11Apr 17, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation3Apr 17, 2018
Epilepsy, nocturnal frontal lobe, type 12Apr 17, 2018
Epilepsy, nocturnal frontal lobe, type 41Apr 17, 2018
Epilepsy, progressive myoclonic 51Apr 17, 2018
Familial cold autoinflammatory syndrome 23Apr 17, 2018
Familial dysautonomia6Apr 17, 2018
Familial hemophagocytic lymphohistiocytosis 21Apr 17, 2018
Familial hypercholesterolemia 12Apr 17, 2018
Familial hypercholesterolemia 32Apr 17, 2018
Familial hypertrophic cardiomyopathy 13Apr 17, 2018
Familial hypertrophic cardiomyopathy 104Apr 17, 2018
Familial hypertrophic cardiomyopathy 166Apr 17, 2018
Familial hypertrophic cardiomyopathy 179Apr 17, 2018
Familial hypertrophic cardiomyopathy 198Apr 17, 2018
Familial hypertrophic cardiomyopathy 446Apr 17, 2018
Familial hypertrophic cardiomyopathy 82Apr 17, 2018
Familial hypokalemia-hypomagnesemia2Apr 17, 2018
Familial platelet disorder with associated myeloid malignancy1Apr 17, 2018
Fibrous dysplasia of jaw2Apr 17, 2018
Finnish congenital nephrotic syndrome4Apr 17, 2018
Focal segmental glomerulosclerosis 11Apr 17, 2018
Focal segmental glomerulosclerosis 3, susceptibility to1Apr 17, 2018
Fraser syndrome 18Apr 17, 2018
Glaucoma 1, open angle, p2Apr 17, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Apr 17, 2018
Glycogen storage disease type III1Apr 17, 2018
Hemophagocytic lymphohistiocytosis, familial, 51Apr 17, 2018
Hepatic veno-occlusive disease-immunodeficiency syndrome1Apr 17, 2018
Hereditary angioedema type 12Apr 17, 2018
Hereditary nonpolyposis colorectal cancer type 411Apr 17, 2018
Hereditary nonpolyposis colorectal cancer type 55Apr 17, 2018
Hereditary spastic paraplegia 102Apr 17, 2018
Hereditary spastic paraplegia 151Apr 17, 2018
Hereditary spastic paraplegia 391Apr 17, 2018
Hereditary spastic paraplegia 71Apr 17, 2018
Hereditary xanthinuria type 11Apr 17, 2018
Hermansky-Pudlak syndrome 41Apr 17, 2018
Hermansky-Pudlak syndrome 51Apr 17, 2018
Hermansky-Pudlak syndrome 91Apr 17, 2018
Herpes simplex encephalitis 11Apr 17, 2018
Herpes simplex encephalitis 21Apr 17, 2018
Heterotaxy, visceral, 4, autosomal3Apr 17, 2018
Histiocytosis-lymphadenopathy plus syndrome1Apr 17, 2018
Huntington disease-like 21Apr 17, 2018
Hydatidiform mole, recurrent, 15Apr 17, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Apr 17, 2018
Hyper-IgM syndrome type 22Apr 17, 2018
Hyper-IgM syndrome type 31Apr 17, 2018
Hyper-IgM syndrome type 51Apr 17, 2018
Hypercalcemia, infantile, 11Apr 17, 2018
Hyperekplexia 11Apr 17, 2018
Hyperekplexia 21Apr 17, 2018
Hyperekplexia 32Apr 17, 2018
Hyperostosis2Feb 6, 2019
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Apr 17, 2018
Ichthyosis, congenital, autosomal recessive 112Apr 17, 2018
Immunodeficiency 511Apr 17, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Apr 17, 2018
Inflammatory bowel disease 28, autosomal recessive4Apr 17, 2018
Isolated lutropin deficiency4Apr 17, 2018
Joubert syndrome 161Apr 17, 2018
Joubert syndrome 173Apr 17, 2018
Joubert syndrome 201Apr 17, 2018
Joubert syndrome 81Apr 17, 2018
KBG syndrome2Apr 17, 2018
Kabuki syndrome 11Apr 17, 2018
Lafora disease2Apr 17, 2018
Left ventricular noncompaction 18Apr 17, 2018
Left ventricular noncompaction 75Apr 17, 2018
Leptin receptor deficiency3Apr 17, 2018
Leukocyte adhesion deficiency, type III1Apr 17, 2018
Limb-girdle muscular dystrophy, type 2A2Apr 17, 2018
Loeys-Dietz syndrome 42Apr 17, 2018
Long QT syndrome 1111Apr 17, 2018
Long QT syndrome 123Apr 17, 2018
Lymphoproliferative syndrome 13Apr 17, 2018
Lynch syndrome I2Apr 17, 2018
Lysosomal acid lipase deficiency1Apr 17, 2018
Majeed syndrome4Apr 17, 2018
Malignant tumor of esophagus1Apr 17, 2018
Maple syrup urine disease3Apr 17, 2018
Meckel syndrome type 81Apr 17, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Apr 17, 2018
Mental retardation, autosomal dominant 52Apr 17, 2018
Mental retardation, autosomal dominant 63Apr 17, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Apr 17, 2018
Microcephalic osteodysplastic primordial dwarfism type II1Apr 17, 2018
Mitochondrial DNA depletion syndrome 21Apr 17, 2018
Mitochondrial complex I deficiency1Apr 17, 2018
Molybdenum cofactor deficiency, complementation group A2Apr 17, 2018
Mucopolysaccharidosis type 71Apr 17, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 17, 2018
Multiple acyl-CoA dehydrogenase deficiency1Apr 17, 2018
Multiple endocrine neoplasia, type 41Apr 17, 2018
Multiple gastrointestinal atresias1Apr 17, 2018
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Apr 17, 2018
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Apr 17, 2018
Nemaline myopathy 51Apr 17, 2018
Nemaline myopathy 61Apr 17, 2018
Nephrogenic diabetes insipidus, autosomal1Apr 17, 2018
Nephronophthisis 141Apr 17, 2018
Nephrotic syndrome, type 37Apr 17, 2018
Netherton syndrome2Apr 17, 2018
Neuronal ceroid lipofuscinosis 105Apr 17, 2018
Neuronal ceroid lipofuscinosis 71Apr 17, 2018
Niemann-Pick disease type C19Apr 17, 2018
Nijmegen breakage syndrome-like disorder1Apr 17, 2018
Non-ketotic hyperglycinemia2Apr 17, 2018
Oligodontia2Feb 6, 2019
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2Apr 17, 2018
Persistent Mullerian duct syndrome3Apr 17, 2018
Phenylketonuria13Apr 17, 2018
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Apr 17, 2018
Phytanic acid storage disease1Apr 17, 2018
Polycystic liver disease 11Apr 17, 2018
Progressive familial heart block type IB1Apr 17, 2018
Propionic acidemia1Apr 17, 2018
Proteasome-associated autoinflammatory syndrome 11Apr 17, 2018
Pyridoxine-dependent epilepsy5Apr 17, 2018
Pyruvate dehydrogenase E2 deficiency1Apr 17, 2018
Renal hypodysplasia/aplasia 13Apr 17, 2018
Rett syndrome, congenital variant1Apr 17, 2018
SUDDEN INFANT DEATH SYNDROME1Apr 17, 2018
Saldino-Mainzer syndrome2Apr 17, 2018
Schimke immuno-osseous dysplasia1Apr 17, 2018
Schuurs-hoeijmakers syndrome1Apr 17, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Apr 17, 2018
Severe combined immunodeficiency due to ADA deficiency2Apr 17, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1Apr 17, 2018
Short rib-polydactyly syndrome, Majewski type2Apr 17, 2018
Short stature2Feb 6, 2019
Shwachman-Diamond syndrome 13Apr 17, 2018
Sitosterolemia1Apr 17, 2018
Slowed nerve conduction velocity, autosomal dominant5Apr 17, 2018
Smith-Lemli-Opitz syndrome3Apr 17, 2018
Spastic paraplegia 11, autosomal recessive13Apr 17, 2018
Spastic paraplegia 33, autosomal dominant1Apr 17, 2018
Spastic paraplegia 351Apr 17, 2018
Spastic paraplegia 4, autosomal dominant2Apr 17, 2018
Spherocytosis type 16Apr 17, 2018
Spinal muscular atrophy, distal, autosomal recessive, 13Apr 17, 2018
Spinocerebellar ataxia type 12Apr 17, 2018
Spinocerebellar ataxia type 135Apr 17, 2018
Spinocerebellar ataxia type 144Apr 17, 2018
Spinocerebellar ataxia type 172Apr 17, 2018
Spinocerebellar ataxia type 232Apr 17, 2018
Spinocerebellar ataxia type 272Apr 17, 2018
Telangiectasia, hereditary hemorrhagic, type 23Apr 17, 2018
Tooth agenesis, selective, 32Apr 17, 2018
Townes-Brocks syndrome 14Apr 17, 2018
Transcolabamin II deficiency1Apr 17, 2018
Type 2 diabetes mellitus3Apr 17, 2018
Unverricht-Lundborg syndrome1Apr 17, 2018
Van den Ende-Gupta syndrome1Apr 17, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 213Apr 17, 2018
Vesicoureteral reflux 22Apr 17, 2018
Vici syndrome2Apr 17, 2018
not provided3Aug 3, 2015

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
46,XY sex reversal, type 31 test
ANKRD1-related dilated cardiomyopathy1 test
Aarskog syndrome1 test
Acne inversa, familial, 21 test
Acquired hemoglobin H disease1 test
Acromicric dysplasia1 test
Acute myeloid leukemia1 test
Adenylosuccinate lyase deficiency1 test
Adult neuronal ceroid lipofuscinosis1 test
Adult proximal spinal muscular atrophy, autosomal dominant1 test
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 6, autosomal recessive1 test
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 41 test
Aicardi Goutieres syndrome 51 test
Alagille syndrome 11 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-B crystallinopathy2 tests
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
Alternating hemiplegia of childhood 11 test
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelogenesis imperfecta, hypomaturation type IIA41 test
Amelogenesis imperfecta, hypomaturation type, IIA11 test
Amelogenesis imperfecta, hypomaturation type, IIA31 test
Amelogenesis imperfecta, type 1E1 test
Amelogenesis imperfecta, type IC1 test
Amelogenesis imperfecta, type IV1 test
Amyloidogenic transthyretin amyloidosis2 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 171 test
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 112 tests
Amyotrophic lateral sclerosis type 22 tests
Amyotrophic lateral sclerosis type 43 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Angelman syndrome2 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
Arrhythmogenic right ventricular dysplasia 83 tests
Arrhythmogenic right ventricular dysplasia 93 tests
Arrhythmogenic right ventricular dysplasia, familial 13 tests
Arrhythmogenic right ventricular dysplasia, familial, 22 tests
Arterial tortuosity syndrome1 test
Ataxia-oculomotor apraxia type 11 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 133 tests
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 21 test
Atrial septal defect 32 tests
Atrial septal defect 41 test
Atrial septal defect 52 tests
Atrial septal defect 7 with or without atrioventricular conduction defects1 test
Atrioventricular septal defect 21 test
Atrioventricular septal defect 31 test
Atrioventricular septal defect 41 test
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Autism 151 test
Autism, susceptibility to, X-linked 32 tests
Autoimmune disease, syndromic multisystem1 test
Autoimmune lymphoproliferative syndrome3 tests
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome, type 2A2 tests
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Azorean disease1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
BNAR syndrome1 test
Becker muscular dystrophy1 test
Benign Rolandic epilepsy1 test
Benign familial neonatal seizures 13 tests
Benign familial neonatal seizures 22 tests
Benign recurrent intrahepatic cholestasis type 21 test
Bilateral right-sidedness sequence1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Blau syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Branchiootic syndrome1 test
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 21 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 41 test
Brugada syndrome 53 tests
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Candidiasis, familial, 21 test
Candidiasis, familial, 62 tests
Carcinoma of pancreas2 tests
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac conduction abnormalities1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, dilated, 2b1 test
Carnitine palmitoyltransferase II deficiency, infantile1 test
Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
Carpal tunnel syndrome1 test
Cataract 16, multiple types2 tests
Catecholaminergic polymorphic ventricular tachycardia type 12 tests
Cd8 deficiency, familial1 test
Central core myopathy1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral folate transport deficiency1 test
Ceroid lipofuscinosis neuronal 21 test
Ceroid lipofuscinosis, neuronal, 111 test
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease, type 4J1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, progressive familial intrahepatic 12 tests
Christianson syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chédiak-Higashi syndrome1 test
Classic homocystinuria1 test
Cognitive impairment with or without cerebellar ataxia1 test
Combined cellular and humoral immune defects with granulomas1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined immunodeficiency due to ZAP70 deficiency2 tests
Combined immunodeficiency, X-linked1 test
Common variable immunodeficiency 11 test
Common variable immunodeficiency 21 test
Common variable immunodeficiency 31 test
Common variable immunodeficiency 41 test
Common variable immunodeficiency 61 test
Common variable immunodeficiency 8, with autoimmunity1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital contractural arachnodactyly1 test
Congenital disorder of glycosylation, type Ia1 test
Congenital heart disease1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy, LMNA-related2 tests
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myopathy with excess of thin filaments2 tests
Congenital myopathy with fiber type disproportion1 test
Conotruncal heart malformations1 test
Corpus callosum agenesis-abnormal genitalia syndrome2 tests
Costello syndrome1 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Creatine transporter deficiency1 test
Cutis laxa, autosomal dominant 12 tests
DOORS syndrome3 tests
Danon disease1 test
Deafness, autosomal dominant 101 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of phosphoserine phosphatase2 tests
DiGeorge sequence1 test
Diabetes mellitus type 11 test
Diabetes mellitus, insulin-dependent, 103 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma2 tests
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
Disorder of cardiovascular system1 test
Distal arthrogryposis type 1A1 test
Distal myopathy, Tateyama type2 tests
Duchenne muscular dystrophy1 test
Dystonia 94 tests
Dystransthyretinemic euthyroidal hyperthyroxinemia1 test
EAST syndrome1 test
Early infantile epileptic encephalopathy 103 tests
Early infantile epileptic encephalopathy 113 tests
Early infantile epileptic encephalopathy 121 test
Early infantile epileptic encephalopathy 131 test
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 163 tests
Early infantile epileptic encephalopathy 22 tests
Early infantile epileptic encephalopathy 43 tests
Early infantile epileptic encephalopathy 51 test
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 82 tests
Early infantile epileptic encephalopathy 93 tests
Early myoclonic encephalopathy2 tests
Ectopia lentis, isolated, autosomal dominant1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 41 test
Elevated serum creatine phosphokinase2 tests
Elliptocytosis 11 test
Elliptocytosis 21 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
Epidermal nevus syndrome1 test
Epilepsy with grand mal seizures on awakening2 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence 51 test
Epilepsy, childhood absence 61 test
Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
Epilepsy, idiopathic generalized 102 tests
Epilepsy, idiopathic generalized 81 test
Epilepsy, idiopathic generalized 91 test
Epilepsy, idiopathic generalized, susceptibility to, 124 tests
Epilepsy, juvenile absence, susceptibility to, 11 test
Epilepsy, juvenile myoclonic 51 test
Epilepsy, nocturnal frontal lobe, 52 tests
Epilepsy, nocturnal frontal lobe, type 12 tests
Epilepsy, nocturnal frontal lobe, type 32 tests
Epilepsy, nocturnal frontal lobe, type 41 test
Epilepsy, progressive myoclonic 32 tests
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 51 test
Epilepsy, progressive myoclonic 61 test
Epileptic encephalopathy, childhood-onset1 test
Epileptic encephalopathy, early infantile, 13 tests
Episodic ataxia type 11 test
Episodic ataxia type 23 tests
Episodic ataxia, type 51 test
Episodic kinesigenic dyskinesia 12 tests
FG syndrome 11 test
Fabry disease1 test
Familial Mediterranean fever2 tests
Familial acne inversa 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cold autoinflammatory syndrome 22 tests
Familial cold autoinflammatory syndrome 31 test
Familial cold urticaria2 tests
Familial febrile seizures 81 test
Familial hemiplegic migraine type 13 tests
Familial hemiplegic migraine type 21 test
Familial hemiplegic migraine type 33 tests
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hyperaldosteronism type 31 test
Familial hypertrophic cardiomyopathy 12 tests
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 112 tests
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 131 test
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 151 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 191 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 201 test
Familial hypertrophic cardiomyopathy 32 tests
Familial hypertrophic cardiomyopathy 42 tests
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial hypokalemia-hypomagnesemia1 test
Familial hypoplastic, glomerulocystic kidney1 test
Familial keratoacanthoma1 test
Familial mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy 22 tests
Familial platelet disorder with associated myeloid malignancy1 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Familial temporal lobe epilepsy 11 test
Fanconi anemia, complementation group D11 test
Farber disease1 test
Febrile seizures, familial, 41 test
Fibrous dysplasia of jaw1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Fraser syndrome 13 tests
Friedreich ataxia 11 test
Frontotemporal dementia1 test
Fukuyama congenital muscular dystrophy1 test
GLUT1 deficiency syndrome 14 tests
GLUT1 deficiency syndrome 24 tests
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Gingival fibromatosis 11 test
Glioma susceptibility 31 test
Glycogen storage disease of heart, lethal congenital1 test
Graft-versus-host disease, susceptibility to1 test
Griscelli syndrome type 21 test
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
HSD10 disease1 test
Heart-hand syndrome, Slovenian type2 tests
Hemophagocytic lymphohistiocytosis, familial, 52 tests
Hereditary nonpolyposis colorectal cancer type 61 test
Hereditary pyropoikilocytosis1 test
Hereditary spastic paraplegia 21 test
Hermansky-Pudlak syndrome 21 test
Herpes simplex encephalitis 21 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Hirschsprung disease 31 test
Histiocytic medullary reticulosis1 test
Holt-Oram syndrome2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hutchinson-Gilford syndrome2 tests
Hydatidiform mole, recurrent, 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 22 tests
Hyper-IgM syndrome type 32 tests
Hyper-IgM syndrome type 51 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3 tests
Hypertrichotic osteochondrodysplasia Cantu type2 tests
Hypertrophic cardiomyopathy 251 test
Hypocalcemia, autosomal dominant 11 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypoparathyroidism-deafness-renal disease syndrome1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypospadias 1, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 51 test
Idiopathic generalized epilepsy1 test
Immune deficiency disease1 test
Immunodeficiency 31C2 tests
Immunodeficiency 512 tests
Immunodeficiency 81 test
Immunodeficiency due to defect in CD3-gamma1 test
Immunodeficiency due to defect in cd3-epsilon1 test
Immunoglobulin A deficiency 21 test
Immunoglobulin m, level of1 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
Indifference to pain, congenital, autosomal recessive2 tests
Infantile convulsions and choreoathetosis2 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
Inflammatory bowel disease 25, autosomal recessive2 tests
Inflammatory bowel disease 28, autosomal recessive2 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability1 test
Interleukin 2 receptor, alpha, deficiency of3 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 101 test
Juvenile myoclonic epilepsy1 test
Juvenile primary lateral sclerosis1 test
Kennedy disease1 test
Keratosis palmoplantaris striata II2 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lafora disease1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 61 test
Leptin deficiency or dysfunction1 test
Leptin receptor deficiency1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal tight skin contracture syndrome2 tests
Lig4 syndrome1 test
Limb-girdle muscular dystrophy, type 1B2 tests
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Lissencephaly 2, X-linked2 tests
Lissencephaly, X-linked1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 52 tests
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 131 test
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 92 tests
Low phospholipid associated cholelithiasis1 test
Lung carcinoma1 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 2, X-linked2 tests
MASS syndrome1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Marfan syndrome1 test
Medulloblastoma1 test
Mental retardation 17, X-linked1 test
Mental retardation 30, X-linked1 test
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
Mental retardation, X-linked 721 test
Mental retardation, X-linked 961 test
Mental retardation, X-linked, syndromic 101 test
Mental retardation, X-linked, syndromic 132 tests
Mental retardation, X-linked, syndromic, Hedera type1 test
Mental retardation, X-linked, syndromic, wu type1 test
Mental retardation, autosomal dominant 11 test
Mental retardation, autosomal dominant 22 tests
Mental retardation, autosomal dominant 52 tests
Mental retardation, autosomal dominant 62 tests
Mental retardation, autosomal dominant 71 test
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3 tests
Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
Mental retardation, with or without seizures, ARX-related, X-linked2 tests
Metachondromatosis1 test
Mevalonic aciduria1 test
Microvascular complications of diabetes 41 test
Minicore myopathy with external ophthalmoplegia1 test
Molybdenum cofactor deficiency, complementation group C1 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 41 test
Multiple sclerosis, susceptibility to, 51 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy, limb-girdle, type 2R3 tests
Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
Myoclonic epilepsy, familial infantile3 tests
Myoclonic epilepsy, juvenile 31 test
Myofibrillar myopathy 13 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related3 tests
Myofibrillar myopathy, filamin C-related2 tests
Myopathy1 test
Myopathy with postural muscle atrophy, X-linked2 tests
Myopathy, distal, 12 tests
Myopathy, distal, 42 tests
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, tubular aggregate, 11 test
Myosin storage myopathy2 tests
Naxos disease2 tests
Nemaline myopathy 12 tests
Nemaline myopathy 21 test
Nemaline myopathy 42 tests
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Neonatal severe hyperparathyroidism1 test
Nephrogenic diabetes insipidus, X-linked1 test
Nephrogenic diabetes insipidus, autosomal1 test
Neurogenic scapuloperoneal syndrome, Kaeser type3 tests
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 4B1 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Niemann-Pick disease type C11 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C21 test
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia5 tests
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 62 tests
Noonan syndrome 71 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Obesity1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome1 test
Oculotrichoanal syndrome1 test
Ohdo syndrome, X-linked1 test
Oligodontia-colorectal cancer syndrome1 test
Opioid dependence 11 test
Orofacial cleft 101 test
Orofacial cleft 6, susceptibility to1 test
Orofaciodigital syndrome I1 test
Osteomyelitis, sterile multifocal, with periostitis and pustulosis2 tests
Pancreatic cancer 21 test
Pancreatic cancer 41 test
Parkinson-dementia syndrome1 test
Parkinsonism with spasticity, X-linked1 test
Paroxysmal extreme pain disorder2 tests
Paroxysmal familial ventricular fibrillation 12 tests
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1 test
Partial androgen insensitivity syndrome1 test
Partington syndrome2 tests
Pelizaeus-Merzbacher disease1 test
Pheochromocytoma2 tests
Phosphoglycerate dehydrogenase deficiency1 test
Phosphoserine aminotransferase deficiency2 tests
Pick's disease1 test
Pierson syndrome1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 11 test
Pitt-Hopkins-like syndrome 21 test
Polyglandular autoimmune syndrome, type 12 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Primary dilated cardiomyopathy1 test
Primary erythromelalgia2 tests
Progressive familial heart block, type 1A2 tests
Progressive familial intrahepatic cholestasis 22 tests
Progressive familial intrahepatic cholestasis 32 tests
Progressive myoclonus epilepsy with ataxia2 tests
Progressive supranuclear ophthalmoplegia1 test
Proteasome-associated autoinflammatory syndrome 12 tests
Purine-nucleoside phosphorylase deficiency1 test
Pustular psoriasis, generalized2 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy3 tests
RAS-associated autoimmune leukoproliferative disorder2 tests
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, with hemolytic anemia1 test
Renpenning syndrome 11 test
Reticular dysgenesis1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Rett syndrome2 tests
Rett syndrome, congenital variant3 tests
Rh-null, regulator type1 test
Rippling muscle disease 22 tests
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked3 tests
SUDDEN INFANT DEATH SYNDROME2 tests
Scapuloperoneal myopathy, X-linked dominant2 tests
Schizophrenia 171 test
Seizures, benign familial infantile, 22 tests
Seizures, benign familial infantile, 34 tests
Selective tooth agenesis 11 test
Severe combined immunodeficiency due to ADA deficiency1 test
Severe combined immunodeficiency due to DCLRE1C deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2 tests
Severe myoclonic epilepsy in infancy4 tests
Severe neonatal-onset encephalopathy with microcephaly2 tests
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Shprintzen syndrome3 tests
Sick sinus syndrome 1, autosomal recessive2 tests
Sick sinus syndrome 2, autosomal dominant1 test
Sick sinus syndrome 3, susceptibility to2 tests
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome, type 21 test
Skin fragility-woolly hair-palmoplantar keratoderma syndrome2 tests
Somatotroph adenoma1 test
Spastic ataxia 5, autosomal recessive1 test
Spherocytosis type 11 test
Spherocytosis type 21 test
Spherocytosis type 31 test
Spherocytosis type 41 test
Spherocytosis type 51 test
Spheroid body myopathy2 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 63 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Stiff skin syndrome1 test
Supravalvar aortic stenosis2 tests
Syndactyly type 31 test
Syndromic X-linked intellectual disability Lubs type2 tests
Syndromic X-linked intellectual disability Snyder type1 test
Syndromic X-linked mental retardation, Cabezas type1 test
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Testicular anomalies with or without congenital heart disease1 test
Thrombocythemia 11 test
Tooth agenesis, selective, 31 test
Tooth agenesis, selective, 41 test
Transposition of the great arteries, dextro-looped 31 test
Tremor, hereditary essential, 41 test
Tricho-dento-osseous syndrome1 test
Trigonocephaly 21 test
Tyrosine kinase 2 deficiency1 test
Unverricht-Lundborg syndrome1 test
Usher syndrome, type 2C1 test
Van der Woude syndrome1 test
Ventricular septal defect 11 test
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 22 tests
Visceral heterotaxy 5, autosomal1 test
Von Hippel-Lindau syndrome1 test
Weill-Marchesani syndrome 21 test
Wilms tumor 11 test
Wiskott-Aldrich syndrome1 test
Wolff-Parkinson-White pattern1 test
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked intellectual disability-hypotonic face syndrome1 test
X-linked mental retardation with marfanoid habitus syndrome1 test
X-linked severe combined immunodeficiency2 tests
Yunis-Varon syndrome1 test
not provided1 test
not provided3 tests
not provided1 test
not provided1 test
not provided1 test
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